{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:19:52Z","timestamp":1753877992225,"version":"3.41.2"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,6,25]],"date-time":"2021-06-25T00:00:00Z","timestamp":1624579200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPGN rep."],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Benign recurrent intrahepatic cholestasis (BRIC) is a disease on the spectrum of familial intrahepatic cholestasis caused by homozygous <jats:italic>ABCB11<\/jats:italic> or <jats:italic>ATP8B1<\/jats:italic> mutations. In recent years, genetic testing has allowed for discovery of a variety of homozygous or compound heterozygous <jats:italic>TJP2<\/jats:italic> mutations associated with progressive familial intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. To our knowledge, no cases of BRIC caused by a single variant mutation of <jats:italic>TJP2<\/jats:italic> have been reported. We describe a 15\u2010year\u2010old female presenting with recurrent episodes of jaundice, vomiting, with intense pruritus, anorexia, and weight loss. Blood work revealed elevated serum conjugated bilirubin and liver enzymes but normal gamma\u2010glutamyl transferase, consistent with BRIC. A genetic panel identified a not previously described single allele mutation in <jats:italic>TJP2<\/jats:italic> of unknown functional significance. This is the first reported case of a clinical entity resembling BRIC with a heterozygous mutation in <jats:italic>TJP2<\/jats:italic>, without associated mutations in other cholestasis\u2010related genes.<\/jats:p><\/jats:sec>","DOI":"10.1097\/pg9.0000000000000087","type":"journal-article","created":{"date-parts":[[2021,6,25]],"date-time":"2021-06-25T17:07:10Z","timestamp":1624640830000},"source":"Crossref","is-referenced-by-count":2,"title":["Case Report"],"prefix":"10.1002","volume":"2","author":[{"given":"Ga\u00ebl A.","family":"Kornitzer","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of Montreal Montreal QC Canada"},{"name":"Division of Gastroenterology, Hepatology and Nutrition CHU Sainte\u2010Justine Montreal QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Alvarez","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Montreal Montreal QC Canada"},{"name":"Division of Gastroenterology, Hepatology and Nutrition CHU Sainte\u2010Justine Montreal QC Canada"},{"name":"Department of Pediatrics University of Montreal Montreal QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,25]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_5_2_1","DOI":"10.1038\/ng.2918"},{"doi-asserted-by":"publisher","key":"e_1_2_5_3_1","DOI":"10.4254\/wjh.v11.i5.450"},{"doi-asserted-by":"publisher","key":"e_1_2_5_4_1","DOI":"10.1038\/ng1147"},{"doi-asserted-by":"publisher","key":"e_1_2_5_5_1","DOI":"10.1002\/humu.23947"},{"doi-asserted-by":"publisher","key":"e_1_2_5_6_1","DOI":"10.1186\/s12881-019-0753-7"},{"doi-asserted-by":"publisher","key":"e_1_2_5_7_1","DOI":"10.1038\/s41598-017-11626-x"},{"doi-asserted-by":"publisher","key":"e_1_2_5_8_1","DOI":"10.1016\/S0140-6736(59)92128-2"},{"doi-asserted-by":"crossref","unstructured":"SticovaE JirsaM PawlowskaJ. New insights in genetic cholestasis: from molecular mechanisms to clinical implications.Can J Gastroenterol Hepatol.2018;20182313675","key":"e_1_2_5_9_1","DOI":"10.1155\/2018\/2313675"},{"unstructured":"National Center for Biotechnology.Information ClinVar; [VCV000501647.1]. Available at:https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000501647.1. Accessed February 17 2021","key":"e_1_2_5_10_1"},{"doi-asserted-by":"publisher","key":"e_1_2_5_11_1","DOI":"10.1007\/s00535-017-1423-1"}],"container-title":["JPGN Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1097\/PG9.0000000000000087","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,12]],"date-time":"2025-06-12T14:34:02Z","timestamp":1749738842000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1097\/PG9.0000000000000087"}},"subtitle":["A Novel Single Variant TJP2 Mutation in a Case of Benign Recurrent Intrahepatic Cholestasis"],"short-title":[],"issued":{"date-parts":[[2021,6,25]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1097\/PG9.0000000000000087"],"URL":"https:\/\/doi.org\/10.1097\/pg9.0000000000000087","archive":["Portico"],"relation":{},"ISSN":["2691-171X","2691-171X"],"issn-type":[{"type":"print","value":"2691-171X"},{"type":"electronic","value":"2691-171X"}],"subject":[],"published":{"date-parts":[[2021,6,25]]},"article-number":"e087"}}